Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels

Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy

(2020) Julie IR Labau et al.   BRAIN

Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family

(2020) Tian Zhang et al.   NEUROLOGICAL SCIENCES

An unbiased and efficient assessment of excitability of sensory neurons for analgesic drug discovery

(2020) Zainab A. Mohammed et al.   PAIN

Pharmacological characterization of a rat Nav1.7 loss-of-function model with insensitivity to pain

(2020) Lubin Chen et al.   PAIN

Understanding the genetic basis of congenital insensitivity to pain

(2020) Ichrak Drissi et al.   BRITISH MEDICAL BULLETIN

Review of primary and secondary erythromelalgia

(2019) N. Mann et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

SCN11A variant as possible pain generator in sensory axonal neuropathy

(2019) Federica Ginanneschi et al.   NEUROLOGICAL SCIENCES

G327E mutation in SCN9A gene causes idiopathic focal epilepsy with Rolandic spikes: a case report of twin sisters

(2019) Zhigang Liu et al.   NEUROLOGICAL SCIENCES

Nav1.7 withholds its pain potential

(2019) Katie Kingwell   NATURE REVIEWS DRUG DISCOVERY

Diagnosis and management of sensory polyneuropathy

(2019) Kelly Graham Gwathmey et al.   BMJ-British Medical Journal

Human Dorsal Root Ganglia

(2019) Rainer Viktor Haberberger et al.   Frontiers in Cellular Neuroscience

A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain

(2019) Jianying Huang et al.   Frontiers in Neuroscience

Novel mutations in SCN9A occurring with fever-associated seizures or epilepsy

(2019) Jian Ding et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7

(2018) B. Wu et al.   CURRENT MOLECULAR MEDICINE

Mutation in Nav 1.7 causes high olfactory sensitivity

(2018) A. Haehner et al.   EUROPEAN JOURNAL OF PAIN

A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia

(2018) Margherita Marchi et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Variable epilepsy phenotypes associated with heterozygous mutation in the SCN9A gene: report of two cases

(2018) Cuiwei Yang et al.   NEUROLOGICAL SCIENCES

Current pain management strategies for patients with erythromelalgia: a critical review

(2018) See Wan Tham et al.   Journal of Pain Research

Lacosamide in patients with Nav1.7 mutations-related small fibre neuropathy: a randomized controlled trial

(2018) Bianca T A de Greef et al.   BRAIN

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy

(2018) Ivo Eijkenboom et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Insensitivity to Pain upon Adult-Onset Deletion of Nav1.7 or Its Blockade with Selective Inhibitors

(2018) Shannon D. Shields et al.   JOURNAL OF NEUROSCIENCE

Small-fiber neuropathy: Expanding the clinical pain universe

(2018) Maurice Sopacua et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Familial episodic limb pain in kindreds with novel Nav1.9 mutations

(2018) Risako Kabata et al.   PLoS One

Neuronal transient receptor potential (TRP) channels and noxious sensory detection in sickle cell disease

(2018) Katelyn E. Sadler et al.   NEUROSCIENCE LETTERS

Gain-of-function mutation of a voltage-gated sodium channel NaV1.7 associated with peripheral pain and impaired limb development

(2017) Brian S. Tanaka et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability

(2017) Jianying Huang et al.   JOURNAL OF CLINICAL INVESTIGATION

Breaking barriers to novel analgesic drug development

(2017) Ajay S. Yekkirala et al.   NATURE REVIEWS DRUG DISCOVERY

Forty Years of Sodium Channels: Structure, Function, Pharmacology, and Epilepsy

(2017) William A. Catterall   NEUROCHEMICAL RESEARCH

Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot

(2017) Margaret K. King et al.   NEUROGENETICS

Na V 1.7 as a pain target – From gene to pharmacology

(2017) Irina Vetter et al.   PHARMACOLOGY & THERAPEUTICS

Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus

(2017) Zhidong Cen et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Regulation of Pain and Itch by TRP Channels

(2017) Carlene Moore et al.   Neuroscience Bulletin

Veratridine produces distinct calcium response profiles in mouse Dorsal Root Ganglia neurons

(2017) Zainab A. Mohammed et al.   Scientific Reports

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9

(2016) Voraluck Phatarakijnirund et al.   BONE

Biallelic truncatingSCN9Amutation identified in four families with congenital insensitivity to pain from Pakistan

(2016) H.A. Sawal et al.   CLINICAL GENETICS

Nav1.7 and other voltage-gated sodium channels as drug targets for pain relief

(2016) Edward C Emery et al.   EXPERT OPINION ON THERAPEUTIC TARGETS

Familial gain-of-function Na v 1.9 mutation in a painful channelopathy

(2016) Chongyang Han et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

P2Y Receptors Sensitize Mouse and Human Colonic Nociceptors

(2016) James R. F. Hockley et al.   JOURNAL OF NEUROSCIENCE

Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli

(2016) Y. Yang et al.   JOURNAL OF NEUROSCIENCE

Development of a Rapid Throughput Assay for Identification of hNav1.7 Antagonist Using Unique Efficacious Sodium Channel Agonist, Antillatoxin

(2016) Fang Zhao et al.   Marine Drugs

Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families

(2016) Hiroko Okuda et al.   PLoS One

p.L1612P, a Novel Voltage-gated Sodium Channel Nav1.7 Mutation Inducing a Cold Sensitive Paroxysmal Extreme Pain Disorder

(2015) Marc R. Suter et al.   ANESTHESIOLOGY

Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder

(2015) Noboru Imai et al.   JOURNAL OF HEADACHE AND PAIN

Novel SCN9A Mutations Underlying Extreme Pain Phenotypes: Unexpected Electrophysiological and Clinical Phenotype Correlations

(2015) E. C. Emery et al.   JOURNAL OF NEUROSCIENCE

NaV1.9: a sodium channel linked to human pain

(2015) Sulayman D. Dib-Hajj et al.   NATURE REVIEWS NEUROSCIENCE

The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy

(2015) Chongyang Han et al.   NEUROMOLECULAR MEDICINE

Comparison of Gating Properties and Use-Dependent Block of Nav1.5 and Nav1.7 Channels by Anti-Arrhythmics Mexiletine and Lidocaine

(2015) Ying Wang et al.   PLoS One

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

(2015) Enrico Leipold et al.   Nature Communications

Endogenous opioids contribute to insensitivity to pain in humans and mice lacking sodium channel Nav1.7

(2015) Michael S. Minett et al.   Nature Communications

Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathy

(2014) Jianying Huang et al.   BRAIN

Painful neuropathies: the emerging role of sodium channelopathies

(2014) Brigitte A. Brouwer et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Painful and painless channelopathies

(2014) David L H Bennett et al.   LANCET NEUROLOGY

Multiple roles for NaV1.9 in the activation of visceral afferents by noxious inflammatory, mechanical, and human disease–derived stimuli

(2014) James R.F. Hockley et al.   PAIN

Painful micturition in a small child: an unusual clinical picture of paroxysmal extreme pain disorder

(2014) Anamarija Meglič et al.   PEDIATRIC NEPHROLOGY

Global Nav1.7 Knockout Mice Recapitulate the Phenotype of Human Congenital Indifference to Pain

(2014) Jacinthe Gingras et al.   PLoS One

Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain

(2013) Xiang Yang Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A new Nav1.7 mutation in an erythromelalgia patient

(2013) Mark Estacion et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Inherited Pain

(2013) Mirjam Eberhardt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

(2013) Enrico Leipold et al.   NATURE GENETICS

Novel Mutations Mapping to the Fourth Sodium Channel Domain of Nav1.7 Result in Variable Clinical Manifestations of Primary Erythromelalgia

(2013) Roman Cregg et al.   NEUROMOLECULAR MEDICINE

A Novel Mutation in SCN9A in a Child With Congenital Insensitivity to Pain

(2013) Zamir Shorer et al.   PEDIATRIC NEUROLOGY

A Novel SCN9A Mutation Responsible for Primary Erythromelalgia and Is Resistant to the Treatment of Sodium Channel Blockers

(2013) Min-Tzu Wu et al.   PLoS One

Link Between Pain and Olfaction in an Inherited Sodium Channelopathy

(2012) Frank Zufall et al.   ARCHIVES OF NEUROLOGY

Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy

(2012) Chongyang Han et al.   BRAIN

Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation

(2012) Janneke G. J. Hoeijmakers et al.   BRAIN

Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia

(2012) C. J. Klein et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Gain-of-function Nav1.8 mutations in painful neuropathy

(2012) C. G. Faber et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy

(2011) Catharina G. Faber et al.   ANNALS OF NEUROLOGY

Pain as a global public health priority

(2011) Daniel S Goldberg et al.   BMC PUBLIC HEALTH

Deletion mutation of sodium channel NaV1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability

(2011) X. Cheng et al.   BRAIN

Intra- and Interfamily Phenotypic Diversity in Pain Syndromes Associated with a Gain-of-Function Variant of NaV1.7

(2011) Mark Estación et al.   Molecular Pain

Antisense-Mediated Knockdown of NaV1.8, but Not NaV1.9, Generates Inhibitory Effects on Complete Freund's Adjuvant-Induced Inflammatory Pain in Rat

(2011) Yao-Qing Yu et al.   PLoS One

Severe case and literature review of primary erythromelalgia: Novel SCN9A gene mutation

(2011) Nedaa Skeik et al.   VASCULAR MEDICINE

Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia

(2010) Jin-Sung Choi et al.   BRAIN

A Nonsense Mutation in the SCN9A Gene in Congenital Insensitivity to Pain

(2010) Mazen Kurban et al.   DERMATOLOGY

A new Nav1.7 sodium channel mutation I234T in a child with severe pain

(2010) Hye-Sook Ahn et al.   EUROPEAN JOURNAL OF PAIN

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations

(2010) James J. Cox et al.   HUMAN MUTATION

Can robots patch-clamp as well as humans? Characterization of a novel sodium channel mutation

(2010) M. Estacion et al.   JOURNAL OF PHYSIOLOGY-LONDON

Chronic non-paroxysmal neuropathic pain — Novel phenotype of mutation in the sodium channel SCN9A gene

(2010) Ron Dabby et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons

(2010) Jin-Sung Choi et al.   Nature Reviews Neurology

A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia

(2009) Tanya Z. Fischer et al.   ANNALS OF NEUROLOGY

Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials

(2009) Angelika Lampert et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Early- and late-onset inherited erythromelalgia: genotype–phenotype correlation

(2009) Chongyang Han et al.   BRAIN

Excitability parameters and sensitivity to anemone toxin ATX-II in rat small diameter primary sensory neurones discriminated byGriffonia simplicifoliaisolectin IB4

(2009) Alistair Snape et al.   JOURNAL OF PHYSIOLOGY-LONDON

The voltage-gated sodium channel Nav1.9 is required for inflammation-based urinary bladder dysfunction

(2009) Amy M. Ritter et al.   NEUROSCIENCE LETTERS

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

(2009) Nanda A. Singh et al.   PLoS Genetics

NaV1.7 Gain-of-Function Mutations as a Continuum: A1632E Displays Physiological Changes Associated with Erythromelalgia and Paroxysmal Extreme Pain Disorder Mutations and Produces Symptoms of Both Disorders

(2008) M. Estacion et al.   JOURNAL OF NEUROSCIENCE

GTP up-regulated persistent Na+current and enhanced nociceptor excitability require NaV1.9

(2007) Johan A. R. Östman et al.   JOURNAL OF PHYSIOLOGY-LONDON